Article

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease

2026-08-03

Abstract excerpt

<h4>Introduction</h4> Mitochondrial DNA (mtDNA) is not routinely analyzed in inherited kidney disease. We evaluated mtDNA variation in families who remained genetically unresolved despite extensive testing. <h4>Methods</h4> We reviewed pedigrees from the Wake Forest–Charles University Rare Inherited Kidney Disease Registry to identify genetically unresolved families with suspected maternal inheritance, performed...

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Literature Corpus work: ca64063f-4da8-5e09-87a5-6415717e1808
DOI: 10.64898/2026.07.31.26359118

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